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MeSH:(Pyruvate Carboxylase Deficiency Disease)

2.Analysis of child with pyruvate carboxylase deficiency type A due to compound heterozygous variants of the PC gene.

Xiaoling ZHAO ; Jie DING ; Danqun JIN

Chinese Journal of Medical Genetics 2022;39(9):996-1000

3.Inherited metabolic diseases in the urine organic acid analysis of complex febrile seizure patients.

Hee Jeong CHEONG ; Hye Rim KIM ; Seong Soo LEE ; Eun Joo BAE ; Won Il PARK ; Hong Jin LEE ; Hui Chul CHOI

Korean Journal of Pediatrics 2009;52(2):199-204

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